Associated Papers
CDK4 phosphorylation status and rational use for combining CDK4/6 and BRAF/MEK inhibition in advanced thyroid carcinomas.
Pita JM et al.
Frontiers in Endocrinology, 2023
37964967 (PubMed )
Supplement: Table_1.xlsx › Table_S3
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
Liu ZX et al.
Jama Network Open, 2022
36484990 (PubMed )
Supplement: jamanetwopen-e2245836-s002.xlsx › Table_S3
Pitfalls and Rewards of Setting Up a Liquid Biopsy Approach for the Detection of Driver Mutations in Circulating Tumor DNAs: Our Institutional Experience.
Chen M et al.
Journal of Personalized Medicine, 2022
36579573 (PubMed )
Supplement: jpm-12-01845-s001.zip › jpm-1998754-supplementary_table_s1.xlsx › LNGCA
NGS-Based Molecular Karyotyping of Multiple Myeloma: Results from the GEM12 Clinical Trial.
Rosa-Rosa JM et al.
Cancers, 2022
36291952 (PubMed )
Supplement: cancers-14-05169-s001.zip › cancers-1947661-supplementary › Supplementary_Tables.xlsx › Supplementary_Table_S3
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Bilat__germline__n__938
Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.
Shin G et al.
Genome Medicine, 2021
34488871 (PubMed )
Supplement: 13073_2021_958_MOESM2_ESM.xlsx › Table_S15_Variant_annotation
Usefulness of Circulating Tumor DNA in Identifying Somatic Mutations and Tracking Tumor Evolution in Patients With Non-small Cell Lung Cancer.
Roosan MR et al.
Chest, 2021
33878340 (PubMed )
Supplement: mmc1.pdf
Improved Variant Detection in Clinical Myeloid NGS Testing by Supplementing a Commercial Myeloid NGS Assay with Custom or Extended Data Filtering and Accessory Fragment Analysis.
Schejbel L et al.
Molecular Diagnosis & Therapy, 2021
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Kim J et al.
Genome Medicine, 2018
30583724 (PubMed )
Supplement: 13073_2018_607_MOESM3_ESM.xlsx › 115_variants_manually_reviewed
Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma.
Hylebos M et al.
Familial Cancer, 2018
Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.
Rohan TE et al.
British Journal of Cancer, 2018
29872146 (PubMed )
Supplement: 41416_2018_89_MOESM2_ESM.xls › Table_2a
Natural (and Unnatural) Small Molecules as Pharmacological Chaperones and Inhibitors in Cancer.
Betancor-Fernández I et al.
Handbook of Experimental Pharmacology, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AD
Subclonal diversity arises early even in small colorectal tumours and contributes to differential growth fates.
Sievers CK et al.
Gut, 2017
27609830 (PubMed )
Supplement: gutjnl-2016-312232supp002.pdf
FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.
Shi E et al.
Journal of Translational Medicine, 2016
27974047 (PubMed )
Supplement: 12967_2016_1075_MOESM3_ESM.xlsx › Table_S7
A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.
Li WL et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
de Leng WW et al.
Plos One, 2016
26919633 (PubMed )
Supplement: pone.0149405.s010.xlsx › testset
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
27930734 (PubMed )
Supplement: pone.0167847.s002.xls › S2
Retrospective review using targeted deep sequencing reveals mutational differences between gastroesophageal junction and gastric carcinomas.
Li-Chang HH et al.
Bmc Cancer, 2015
25656989 (PubMed )
Supplement: 12885_2015_1021_MOESM6_ESM.xlsx › Sheet1
Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.
Siroy AE et al.
The Journal of Investigative Dermatology, 2015
25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.pdf
Increased MAPK reactivation in early resistance to dabrafenib/trametinib combination therapy of BRAF-mutant metastatic melanoma.
Long GV et al.
Nature Communications, 2014
RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.
Dommering CJ et al.
Journal of Medical Genetics, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.
Valverde JR et al.
Bmc Genetics, 2005
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.
Nichols KE et al.
Human Mutation, 2005
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
Richter S et al.
American Journal of Human Genetics, 2003
The dominant TP53 hotspot mutation in IDH -mutant astrocytoma, R273C, has distinctive pathologic features and sex-specific prognostic implications.
Marker DF et al.
Neuro-oncology Advances, 0
35047821 (PubMed )
Supplement: vdab182_suppl_supplementary_table_s1.xlsx › Master
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